Bias in CFTR screening panels.
作者信息
Sosnay Patrick R, Castellani Carlo, Penland Christopher M, Rommens Johanna M, Lewis Michelle, Raraigh Karen S, Corey Mary, Cutting Garry R
机构信息
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
出版信息
Genet Med. 2016 Feb;18(2):209. doi: 10.1038/gim.2015.105. Epub 2015 Oct 29.
Abstract
摘要
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ACMG position statement on prenatal/preconception expanded carrier screening.美国医学遗传学与基因组学学会关于产前/孕前扩展携带者筛查的立场声明
Genet Med. 2013 Jun;15(6):482-3. doi: 10.1038/gim.2013.47. Epub 2013 Apr 25.
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Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?常见的计算机模拟工具能否预测 CFTR 基因中氨基酸替换的临床后果？
Clin Genet. 2010 May;77(5):464-73. doi: 10.1111/j.1399-0004.2009.01351.x. Epub 2009 Jan 6.
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